What are the indications for referring a patient with suspected porphyria to a specialist clinic?

Indications for referring a patient with suspected porphyria to a specialist clinic include clinical suspicion based on characteristic symptoms such as recurrent abdominal pain, neurological symptoms, or unexplained photosensitivity, especially when initial investigations are inconclusive or when acute attacks occur.

Referral is appropriate to confirm diagnosis through specialized biochemical testing (e.g., urine, blood, and stool porphyrin analysis) and to initiate expert management, including avoidance of precipitating factors and consideration of specific treatments.

Although the provided UK guideline excerpts do not explicitly detail porphyria referral criteria, the general principle in UK practice is to refer patients with suspected rare metabolic or hematological disorders like porphyria to specialist clinics for definitive diagnosis and management.